What is Down Syndrome?

What is Down syndrome?

Down syndrome is a chromosomal disorder that is caused by the presence of all or part of an extra 21st chromosome. Down syndrome is associated with impairment of cognitive ability, physical growth and facial appearance. It can be identified during pregnancy or at birth.

People with Down syndrome tend to have a lower than average cognitive ability, often ranging from mild to moderate learning disabilities. A small number of people have severe to profound mental disability. The occurrence of Down syndrome is estimated at 1 per 800 to 1,000 births, although these statistics are heavily influenced by the age of the mother. Other factors also exist.

The symptoms of Down syndrome can differ widely from child to child. While some kids with Down syndrome need a lot of medical attention, others lead very healthy and independent life.

Several of the common physical features of Down syndrome also appear in people with a standard set of chromosomes. They may include a single transverse palmar crease (a single instead of a double crease across one or both palms, also known as the Simian crease), an almond shape to the eyes caused by an epicanthic fold of the eyelid, upslanting palpebral fissures, shorter limbs, poor muscle tone, a larger than normal space between the big and second toes, and protruding tongue. Health concerns for individuals with Down syndrome include a higher risk for gastroesophageal reflux disease,congenital heart defects, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions.

Early intervention in childhood, screening for common problems, medical treatment where indicated, a conducive family environment, and vocational training can improve the overall development of children with Down syndrome. Although some of the physical genetic limitations of Down syndrome cannot be overcome, proper care and education will improve quality of life.

How Does Down syndrome Affect a Child?

A doctor can usually tell if a newborn has the condition through a physical examination.A majority of children with Down syndrome generally reach developmental milestones - like crawling, walking and sitting up - later than other kids. At birth, kids with Down syndrome are usually of average size, but they tend to grow at a slower rate and remain smaller than their peers. For infants, low muscle tone may contribute to constipation and other digestive issues as well as sucking and feeding problems. In toddlers and older children, there may be delays in speech and self-care skills like feeding, dressing, and toilet training.

Down syndrome affects children's cognitive abilities in different ways, but most have mild to moderate mental retardation. Children with Down syndrome can and do learn, and are capable of developing skills throughout their lives. They simply reach goals at a different pace - which is why it's important not to compare a child with Down syndrome with typically developing siblings or even other children with the condition. Kids with Down syndrome have a wide range of abilities, and there's no way to tell at birth what they will be capable of as they grow up.

Medical Problems Associated with Down syndrome

While some kids with Down syndrome have no other health problems, others may experience a host of medical issues that require extra care. For example, half of all children born with Down syndrome also have congenital heart defects and are prone to developing pulmonary hypertension (high blood pressure in the lungs). A pediatric cardiologist can monitor these types of problems, several of which can be treated with medication or surgery.

Prenatal Screening and Diagnosis

There are two types of prenatal tests available to detect Down syndrome in a fetus: screening tests and diagnostic tests. Screening tests estimate the risk that a fetus has Down syndrome; diagnostic tests can tell whether the fetus actually has the condition.

Screening tests are generally painless and noninvasive. But because they can't give a definitive answer as to whether a baby has Down syndrome, mostly they're used to help parents decide whether to have more diagnostic tests.

Diagnostic tests are about 99% accurate in detecting Down syndrome and other chromosomal abnormalities. They are generally recommended only for women who are 35 years old or older, those with a family history of genetic defects.

Getting Help
If your family has someone suffering from down's syndrome you can establish a social network with others facing the same problem. Currently many individuals with down syndrome are attending school and college. Physical and speech therapists play an important role in maximizing the affected person's capabilities.